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Cib2 calcium and integrin binding family member 2 [ Mus musculus (house mouse) ]

Gene ID: 56506, updated on 21-Apr-2024

Summary

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Official Symbol
Cib2provided by MGI
Official Full Name
calcium and integrin binding family member 2provided by MGI
Primary source
MGI:MGI:1929293
See related
Ensembl:ENSMUSG00000037493 AllianceGenome:MGI:1929293
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
KIP2; KIP 2; 2810434I23Rik
Summary
Enables calcium ion binding activity and integrin binding activity. Involved in calcium ion homeostasis and photoreceptor cell maintenance. Located in several cellular components, including muscle tendon junction; photoreceptor inner segment; and sarcolemma. Is expressed in several structures, including central nervous system; gut; inner ear; integumental system; and skeletal musculature. Used to study autosomal recessive nonsyndromic deafness 48. Human ortholog(s) of this gene implicated in Usher syndrome type 1J and autosomal recessive nonsyndromic deafness 48. Orthologous to human CIB2 (calcium and integrin binding family member 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in subcutaneous fat pad adult (RPKM 48.8), mammary gland adult (RPKM 40.3) and 19 other tissues See more
Orthologs
human all
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Genomic context

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Location:
9 A5.3; 9 29.7 cM
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (54452074..54467512, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (54544794..54560190, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene gliomedin, opposite strand Neighboring gene gliomedin Neighboring gene STARR-seq mESC enhancer starr_24167 Neighboring gene STARR-seq mESC enhancer starr_24168 Neighboring gene Dmx-like 2 Neighboring gene STARR-seq mESC enhancer starr_24169 Neighboring gene SH2 domain containing 7 Neighboring gene STARR-positive B cell enhancer ABC_E888 Neighboring gene STARR-seq mESC enhancer starr_24171 Neighboring gene isocitrate dehydrogenase 3 (NAD+) alpha Neighboring gene acyl-CoA synthetase bubblegum family member 1 Neighboring gene predicted gene, 51677

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. CIB2 Is a Novel Endogenous Repressor of Atrial Remodeling. Wang Y, et al. Circulation, 2023 Jun 6. PMID 37128899
  2. CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival. Michel V, et al. EMBO Mol Med, 2017 Dec. PMID 29084757, Free PMC Article
  3. CIB2 and CIB3 Regulate Stereocilia Maintenance and Mechanoelectrical Transduction in Mouse Vestibular Hair Cells. Wang X, et al. J Neurosci, 2023 May 3. PMID 37001993, Free PMC Article
  4. CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function. Sethna S, et al. Nat Commun, 2021 Jun 23. PMID 34162842, Free PMC Article
  5. Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice. Wang Y, et al. Front Mol Neurosci, 2017. PMID 29255404, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CIB2 Is a Novel Endogenous Repressor of Atrial Remodeling.
    Title: CIB2 Is a Novel Endogenous Repressor of Atrial Remodeling.
  2. CIB2 and CIB3 Regulate Stereocilia Maintenance and Mechanoelectrical Transduction in Mouse Vestibular Hair Cells.
    Title: CIB2 and CIB3 Regulate Stereocilia Maintenance and Mechanoelectrical Transduction in Mouse Vestibular Hair Cells.
  3. CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function.
    Title: CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function.
  4. This study showed that calcium and integrin-binding protein 2 binds to the components of the hair cell mechanotransduction complex, TMC1 and TMC2, and these interactions are disrupted by deafness-causing Cib2 mutations.
    Title: CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.
  5. Cib2 binds integrin alpha7Bbeta1D and is reduced in laminin alpha2 chain-deficient muscular dystrophy
    Title: Cib2 binds integrin alpha7Bbeta1D and is reduced in laminin alpha2 chain-deficient muscular dystrophy.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calcium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables calcium ion binding ISO
Inferred from Sequence Orthology
more info
  
enables integrin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables magnesium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables magnesium ion binding ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
  
enables protein-containing complex binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular response to ATP ISO
Inferred from Sequence Orthology
more info
  
involved_in photoreceptor cell maintenance IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of cytosolic calcium ion concentration ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in cell periphery IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cuticular plate ISO
Inferred from Sequence Orthology
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in muscle tendon junction IDA
Inferred from Direct Assay
more info
 PubMed 
located_in neuromuscular junction IDA
Inferred from Direct Assay
more info
 PubMed 
located_in photoreceptor inner segment IDA
Inferred from Direct Assay
more info
 PubMed 
located_in photoreceptor outer segment IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in sarcolemma IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in stereocilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in stereocilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in stereocilium ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
calcium and integrin-binding family member 2
Names
calcium binding protein Kip2
kinase-interacting protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_019686.6 → NP_062660.1  calcium and integrin-binding family member 2

    See identical proteins and their annotated locations for NP_062660.1

    Status: VALIDATED

    Source sequence(s)
    AB016080, AI842389, AK013240, DN175059
    Consensus CDS
    CCDS40642.1
    UniProtKB/Swiss-Prot
    Q9Z309
    UniProtKB/TrEMBL
    Q544Z8
    Related
    ENSMUSP00000038527.7, ENSMUST00000041901.7
    Conserved Domains (1) summary
    COG5126
    Location:68 → 178
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    54452074..54467512 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036155147.1 → XP_036011040.1  calcium and integrin-binding family member 2 isoform X1

    Conserved Domains (1) summary
    COG5126
    Location:25 → 135
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

  2. XM_036155148.1 → XP_036011041.1  calcium and integrin-binding family member 2 isoform X1

    Conserved Domains (1) summary
    COG5126
    Location:25 → 135
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Z309.1 GenPept UniProtKB/Swiss-Prot:Q9Z309

Gene LinkOut

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